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References

These sources were used to develop the Genetics Home Reference condition summary on piebaldism.

Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x. Epub 2009 Jun 23. Review. PubMed citation
Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, Burn J, Falabella R, Gatto EM, Ishii N, et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan;56(1):58-66. PubMed citation
López V, Jordá E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb 15;17(2):13. Review. PubMed citation
Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, González-Sánchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sánchez-García I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct 1;122A(2):125-32. PubMed citation
Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet. 1992 Feb;50(2):261-9. PubMed citation
Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994 Nov;103(5 Suppl):137S-140S. Review. PubMed citation
Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997 Mar;16(1):15-23. Review. PubMed citation
Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. 2004 Oct;43(10):716-9. Review. PubMed citation

Reviewed: February 2013

Published: February 11, 2013


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